| Metadata | |
|---|---|
| ID | DOID:0070151 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070151 Copy |
| Name | hereditary sensory and autonomic neuropathy type 6 |
| Definition | A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous or compound heterozygous in the DST gene on chromosome 6p12. https://www.ncbi.nlm.nih.gov/pubmed/22522446 |
| Xrefs |
SNOMEDCT_US_2025_09_01:1279838005 |
| SKOS |
exactMatch MIM:614653 exactMatch ORDO:314381 exactMatch UMLS_CUI:C3539003 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary sensory and autonomic neuropathy type VI [EXACT] HSAN6 [EXACT] |
| Parent Relationships |